Variant DetailsVariant: esv3570334 Internal ID | 18351846 | Landmark | | Location Information | | Cytoband | 5q21.3 | Allele length | Assembly | Allele length | hg38 | 5849 | hg19 | 5849 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9775814, essv9775812, essv9775799, essv9775807, essv9775805, essv9775803, essv9775806, essv9775804, essv9775809, essv9775813, essv9775808, essv9775810, essv9775801, essv9775802, essv9775815 | Samples | 400075MR, 400455SJ, 401427CB, 401899MB, 401733CG, 401064FR, 400583HS, 401766MR, 401234MB, 400977SC, 401729AC, 401087SF, 400520FM, 400030WD, 400291VJ | Known Genes | FER | Method | SNP array | Analysis | We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection. | Platform | Affymetrix CytoScan HD 2.7M array | Comments | | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | esv3570334
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 15 | Observed Complex | 0 | Frequency | n/a |
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